PLK5

polo like kinase 5 (inactive)

Basic information

Region (hg38): 19:1508023-1536046

Previous symbols: [ "PLK5P" ]

Links

ENSG00000185988 ∙ NCBI:126520 ∙ ∙ HGNC:27001 ∙ Uniprot:Q496M5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PLK5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLK5 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense					2	2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)					1	1
splice region						0
non coding			27	3		30
Total	0	0	27	3	5

Variants in PLK5

This is a list of pathogenic ClinVar variants found in the PLK5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-1508043-C-T		not specified	Uncertain significance (Jan 10, 2025)
19-1508078-C-T		not specified	Likely benign (Sep 25, 2024)
19-1508079-C-A		not specified	Uncertain significance (Jun 26, 2023)
19-1508081-G-A		not specified	Uncertain significance (Oct 16, 2024)
19-1508448-A-C		not specified	Uncertain significance (Feb 04, 2025)
19-1508478-C-T		not specified	Uncertain significance (Mar 20, 2024)
19-1508481-G-A		not specified	Uncertain significance (Jun 29, 2023)
19-1508487-A-C		not specified	Uncertain significance (Jan 20, 2025)
19-1508489-G-T		not specified	Uncertain significance (Sep 26, 2024)
19-1508507-C-T		not specified	Uncertain significance (Mar 15, 2024)
19-1508511-C-T		not specified	Uncertain significance (Sep 14, 2022)
19-1508529-C-T		not specified	Uncertain significance (Jul 16, 2024)
19-1508562-G-T		not specified	Uncertain significance (Oct 21, 2024)
19-1510200-C-T		not specified	Likely benign (Aug 13, 2021)
19-1510201-G-A		not specified	Uncertain significance (Nov 08, 2021)
19-1510201-G-T		not specified	Uncertain significance (Mar 22, 2023)
19-1510369-G-A		not specified	Uncertain significance (Mar 31, 2024)
19-1510379-A-T		not specified	Uncertain significance (Oct 20, 2023)
19-1510391-C-T		not specified	Uncertain significance (Apr 25, 2022)
19-1510400-C-T		not specified	Uncertain significance (Aug 20, 2024)
19-1510411-G-A		not specified	Likely benign (Feb 03, 2022)
19-1510640-G-A		not specified	Uncertain significance (Jul 27, 2023)
19-1510649-G-C		not specified	Uncertain significance (Oct 20, 2024)
19-1510651-C-T		not specified	Uncertain significance (Oct 10, 2023)
19-1510652-G-A		not specified	Uncertain significance (Nov 08, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PLK5	protein_coding	protein_coding	ENST00000334770	9	11383

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000920	0.803	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.283	189	200	0.944	0.0000133	2088
Missense in Polyphen		40	45.703	0.87522		548
Synonymous	-0.361	97	92.6	1.05	0.00000639	728
Loss of Function	1.19	8	12.6	0.637	5.35e-7	157

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inactive serine/threonine-protein kinase that plays a role in cell cycle progression and neuronal differentiation. {ECO:0000269|PubMed:21245385}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.180
• ghis: 0.593

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Plk5

Gene ontology

• Biological process: defense response to tumor cell;protein phosphorylation;cell cycle;positive regulation of neuron projection development;regulation of apoptotic process;cell division;cellular response to growth factor stimulus;regulation of G1/S transition of mitotic cell cycle
• Cellular component: nucleolus;cytoplasm
• Molecular function: protein kinase activity;ATP binding